Works matching AU Bonache, Sandra

Results: 17

Clinical consequences of BRCA2 hypomorphism.

Published in:

NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00322-9

By:

Castells-Roca, Laia;
Gutiérrez-Enríquez, Sara;
Bonache, Sandra;
Bogliolo, Massimo;
Carrasco, Estela;
Aza-Carmona, Miriam;
Montalban, Gemma;
Muñoz-Subirana, Núria;
Pujol, Roser;
Cruz, Cristina;
Llop-Guevara, Alba;
Ramírez, María J.;
Saura, Cristina;
Lasa, Adriana;
Serra, Violeta;
Diez, Orland;
Balmaña, Judith;
Surrallés, Jordi

Publication type:

Article

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Published in:

Breast Cancer Research & Treatment, 2014, v. 147, n. 1, p. 133, doi. 10.1007/s10549-014-3078-4

By:

Blanco, Ana;
Gutiérrez-Enríquez, Sara;
Santamariña, Marta;
Montalban, Gemma;
Bonache, Sandra;
Balmaña, Judith;
Carracedo, Ángel;
Diez, Orland;
Vega, Ana

Publication type:

Article

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.

Published in:

Breast Cancer Research & Treatment, 2012, v. 133, n. 1, p. 273, doi. 10.1007/s10549-011-1909-0

By:

Ruiz de Garibay, Gorka;
Gutiérrez-Enríquez, Sara;
Garre, Pilar;
Bonache, Sandra;
Romero, Atocha;
Palomo, Laura;
Sánchez de Abajo, Ana;
Benítez, Javier;
Balmaña, Judith;
Pérez-Segura, Pedro;
Díaz-Rubio, Eduardo;
Díez, Orland;
Caldés, Trinidad;
Hoya, Miguel

Publication type:

Article

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Published in:

Journal of Cancer Research & Clinical Oncology, 2018, v. 144, n. 12, p. 2495, doi. 10.1007/s00432-018-2763-9

By:

Bonache, Sandra;
Esteban, Irene;
Moles-Fernández, Alejandro;
Tenés, Anna;
Duran-Lozano, Laura;
Montalban, Gemma;
Bach, Vanessa;
Carrasco, Estela;
Gadea, Neus;
López-Fernández, Adrià;
Torres-Esquius, Sara;
Mancuso, Francesco;
Caratú, Ginevra;
Vivancos, Ana;
Tuset, Noemí;
Balmaña, Judith;
Gutiérrez-Enríquez, Sara;
Diez, Orland

Publication type:

Article

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.

Published in:

Journal of Cancer Research & Clinical Oncology, 2013, v. 139, n. 3, p. 529, doi. 10.1007/s00432-013-1385-5

By:

Bonache, Sandra;
Hoya, Miguel;
Gutierrez-Enriquez, Sara;
Tenés, Anna;
Masas, Miriam;
Balmaña, Judith;
Diez, Orland

Publication type:

Article

A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.

Published in:

EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809172

By:

Castroviejo‐Bermejo, Marta;
Cruz, Cristina;
Llop‐Guevara, Alba;
Gutiérrez‐Enríquez, Sara;
Ducy, Mandy;
Ibrahim, Yasir Hussein;
Gris‐Oliver, Albert;
Pellegrino, Benedetta;
Bruna, Alejandra;
Guzmán, Marta;
Rodríguez, Olga;
Grueso, Judit;
Bonache, Sandra;
Moles‐Fernández, Alejandro;
Villacampa, Guillermo;
Viaplana, Cristina;
Gómez, Patricia;
Vidal, Marc;
Peg, Vicente;
Serres‐Créixams, Xavier

Publication type:

Article

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

Published in:

International Journal of Cancer, 2014, v. 134, n. 9, p. 2088, doi. 10.1002/ijc.28540

By:

Gutiérrez‐Enríquez, Sara;
Bonache, Sandra;
Ruíz de Garibay, Gorka;
Osorio, Ana;
Santamariña, Marta;
Ramón y Cajal, Teresa;
Esteban‐Cardeñosa, Eva;
Tenés, Anna;
Yanowsky, Kira;
Barroso, Alicia;
Montalban, Gemma;
Blanco, Ana;
Cornet, Mònica;
Gadea, Neus;
Infante, Mar;
Caldés, Trinidad;
Díaz‐Rubio, Eduardo;
Balmaña, Judith;
Lasa, Adriana;
Vega, Ana

Publication type:

Article

Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism.

Published in:

Apoptosis, 2015, v. 20, n. 3, p. 371, doi. 10.1007/s10495-014-1056-2

By:

Fuentes-Raspall, María;
Caragol, Isabel;
Alonso, Carmen;
Ramón y Cajal, Teresa;
Fisas, David;
Seoane, Alejandro;
Carvajal, Nerea;
Bonache, Sandra;
Díez, Orland;
Gutiérrez-Enríquez, Sara

Publication type:

Article

Sperm gene expression profile is related to pregnancy rate after insemination and is predictive of low fecundity in normozoospermic men.

Published in:

Human Reproduction, 2012, v. 27, n. 6, p. 1556, doi. 10.1093/humrep/des074

By:

Bonache, Sandra;
Mata, Ana;
Ramos, María Dolores;
Bassas, Lluís;
Larriba, Sara

Publication type:

Article

Epigenetic Disruption of the PIWI Pathway in Human Spermatogenic Disorders.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047892

By:

Heyn, Holger;
Ferreira, Humberto J.;
Bassas, Lluís;
Bonache, Sandra;
Sayols, Sergi;
Sandoval, Juan;
Esteller, Manel;
Larriba, Sara

Publication type:

Article

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

Published in:

Breast Cancer Research & Treatment, 2019, v. 174, n. 2, p. 543, doi. 10.1007/s10549-018-05094-8

By:

Duran-Lozano, Laura;
Montalban, Gemma;
Bonache, Sandra;
Moles-Fernández, Alejandro;
Tenés, Anna;
Castroviejo-Bermejo, Marta;
Carrasco, Estela;
López-Fernández, Adrià;
Torres-Esquius, Sara;
Gadea, Neus;
Stjepanovic, Neda;
Balmaña, Judith;
Gutiérrez-Enríquez, Sara;
Diez, Orland

Publication type:

Article

Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2296, doi. 10.1002/humu.23882

By:

Montalban, Gemma;
Bonache, Sandra;
Moles‐Fernández, Alejandro;
Gadea, Neus;
Tenés, Anna;
Torres‐Esquius, Sara;
Carrasco, Estela;
Balmaña, Judith;
Diez, Orland;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Front Cover, Volume 40, Issue 9.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. i, doi. 10.1002/humu.23908

By:

Padilla, Natàlia;
Moles‐Fernández, Alejandro;
Riera, Casandra;
Montalban, Gemma;
Özkan, Selen;
Ootes, Lars;
Bonache, Sandra;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
de la Cruz, Xavier

Publication type:

Article

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1546, doi. 10.1002/humu.23861

By:

Cline, Melissa S.;
Babbi, Giulia;
Bonache, Sandra;
Cao, Yue;
Casadio, Rita;
Cruz, Xavier;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
Katsonis, Panagiotis;
Lai, Carmen;
Lichtarge, Olivier;
Martelli, Pier L.;
Mishne, Gilad;
Moles‐Fernández, Alejandro;
Montalban, Gemma;
Mooney, Sean D.;
O'Conner, Robert;
Ootes, Lars;
Özkan, Selen;
Padilla, Natalia

Publication type:

Article

BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1593, doi. 10.1002/humu.23802

By:

Padilla, Natàlia;
Moles‐Fernández, Alejandro;
Riera, Casandra;
Montalban, Gemma;
Özkan, Selen;
Ootes, Lars;
Bonache, Sandra;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
de la Cruz, Xavier

Publication type:

Article

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00366

By:

Moles-Fernández, Alejandro;
Duran-Lozano, Laura;
Montalban, Gemma;
Bonache, Sandra;
López-Perolio, Irene;
Menéndez, Mireia;
Santamariña, Marta;
Behar, Raquel;
Blanco, Ana;
Carrasco, Estela;
López-Fernández, Adrià;
Stjepanovic, Neda;
Balmaña, Judith;
Capellá, Gabriel;
Pineda, Marta;
Vega, Ana;
Lázaro, Conxi;
de la Hoya, Miguel;
Diez, Orland;
Gutiérrez-Enríquez, Sara

Publication type:

Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666

By:

Colombo, Mara;
Blok, Marinus J.;
Whiley, Phillip;
Santamariña, Marta;
Gutiérrez-Enríquez, Sara;
Romero, Atocha;
Garre, Pilar;
Becker, Alexandra;
Smith, Lindsay Denise;
De Vecchi, Giovanna;
Brandão, Rita D.;
Tserpelis, Demis;
Brown, Melissa;
Blanco, Ana;
Bonache, Sandra;
Menéndez, Mireia;
Houdayer, Claude;
Foglia, Claudia;
Fackenthal, James D.;
Baralle, Diana

Publication type:

Article